A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.
Tajima T, Nakamura A, Ishizu K.
Endocr J. 2013;60(2):245-9. doi: 10.1507/endocrj.ej13-0009. Epub 2013 Jan 30.
Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.
Tenenbaum-Rakover Y, Turgeon MO, London S, Hermanns P, Pohlenz J, Bernard DJ, Bercovich D.
Thyroid. 2016 Dec;26(12):1693-1700. doi: 10.1089/thy.2015.0672. Epub 2016 Jul 25.
FMRP targets distinct mRNA sequence elements to regulate protein expression.
Ascano M Jr, Mukherjee N, Bandaru P, Miller JB, Nusbaum JD, Corcoran DL, Langlois C, Munschauer M, Dewell S, Hafner M, Williams Z, Ohler U, Tuschl T.
Nature. 2012 Dec 20;492(7429):382-6. doi: 10.1038/nature11737. Epub 2012 Dec 12.
IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.
Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO, Bernard DJ, Fliers E, van Trotsenburg AS, Losekoot M, Persani L, Wit JM, Biermasz NR, Pereira AM, Oostdijk W; IGSF1 Clinical Care Group.
J Clin Endocrinol Metab. 2016 Apr;101(4):1627-36. doi: 10.1210/jc.2015-3880. Epub 2016 Feb 3.
The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth.
Ghanny S, Zidell A, Pedro H, Joustra SD, Losekoot M, Wit JM, Aisenberg J.
J Clin Res Pediatr Endocrinol. 2021 Nov 25;13(4):461-467. doi: 10.4274/jcrpe.galenos.2020.2020.0125. Epub 2020 Oct 13.
Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome).
Jennings M, Hall JG, Hoehn H.
Am J Med Genet. 1980;7(4):417-32. doi: 10.1002/ajmg.1320070404.
